Canonical Allele Identifier: CA645617760

Gene: COL4A5

Linked Data

• COSMIC: COSM5501029 ; COSM5501030

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108695389del , CM000685.2:g.108695389del	GRCh38
NC_000023.10:g.107938619del , CM000685.1:g.107938619del	GRCh37
NC_000023.9:g.107825275del	NCBI36
NG_011977.1:g.260466del
NG_011977.2:g.260466del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4944del MANE Select	ENSP00000331902.7:p.Asn1649ThrfsTer10
ENST00000361603.7:c.4926del	ENSP00000354505.2:p.Asn1643ThrfsTer10
ENST00000510690.2:n.1438del
ENST00000644079.1:n.1775del
ENST00000328300.10:c.4944del	ENSP00000331902.6:p.Asn1649ThrfsTer10
ENST00000361603.6:c.4926del	ENSP00000354505.2:p.Asn1643ThrfsTer10
ENST00000504541.1:c.219+468del	ENSP00000424845.1:n.219+468del
ENST00000515658.1:c.325-908del
NM_000495.4:c.4926del	NP_000486.1:p.Asn1643ThrfsTer10
NM_033380.2:c.4944del	NP_203699.1:p.Asn1649ThrfsTer10
XM_005262070.2:c.4935del	XP_005262127.1:p.Asn1646ThrfsTer10
XM_006724616.2:c.4944del	XP_006724679.1:p.Asn1649ThrfsTer10
XM_011530849.1:c.4620del	XP_011529151.1:p.Asn1541ThrfsTer10
XM_011530851.1:c.2517del	XP_011529153.1:p.Asn840ThrfsTer10
XM_011530849.2:c.4959del	XP_011529151.2:p.Asn1654ThrfsTer10
XM_017029259.2:c.4950del	XP_016884748.1:p.Asn1651ThrfsTer10
XM_017029260.1:c.4941del	XP_016884749.1:p.Asn1648ThrfsTer10
XM_017029263.2:c.3279del	XP_016884752.1:p.Asn1094ThrfsTer10
NM_000495.5:c.4926del	NP_000486.1:p.Asn1643ThrfsTer10
NM_033380.3:c.4944del MANE Select	NP_203699.1:p.Asn1649ThrfsTer10